Detalhe da pesquisa
1.
Diagnostic Challenges in a Family with Dominant Dystrophic Epidermolysis Bullosa and Isolated Hereditary Nail Disorder: Paternal Gonosomal Mosaicism for COL7A1 Mutation and Maternal RSPO4 Variant.
Clin Exp Dermatol
; 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38828627
2.
Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).
Am J Med Genet A
; 188(6): 1792-1800, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35238469
3.
New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.
Cytogenet Genome Res
; 160(9): 523-530, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33161406
4.
Cytogenetic, Molecular, and Phenotypic Characterization of a Patient with de novo Derivative Chromosome 18 and Review of the Literature.
Cytogenet Genome Res
; 159(2): 74-80, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31658462
5.
A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy.
Horm Res Paediatr
; 97(2): 157-164, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37463572
6.
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Clin Neurol Neurosurg
; 224: 107560, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36580738
7.
Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa.
Int J Dermatol
; 59(7): 851-855, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32506551